What is a genetic test and what are the possible results?

There are a few stages to having a genetic test. Your specialist will refer you to the local genetics centre. You will then receive an appointment to attend your nearest genetics centre, at which point you will be asked to complete a family history form. At the appointment a clinical geneticist or genetic counsellor will discuss with you what is involved in a test and what the implications will be for you and your family. If you wish to go ahead, giving consent to the test, you will then have a blood test. You will be given a choice of how you’d like to receive the results – whether by phone or in writing, or sometimes face to face.

The time it takes for the blood test to be analysed and the results to be available varies slightly between the genetics centres and you will be advised how long it will take for yours. It is usually between six and ten weeks.

When you are informed about your test result, you will be invited to speak with the genetics teams again to explain the result and what the next steps are.

“At the first meeting, they talked about the likelihood of it being genetic, and asked me to complete the family history forms. Because an aunt on my dad’s side had died of ovarian cancer, and another of breast cancer, the counsellor said this indicated a strong link.” Berni

What are the possible results of a genetic test?

There are three possible results for testing for a BRCA1 or BRCA2 gene mutation:

Mutation present - sometimes called a positive test result: Testing identifies a mutation that causes a significant change to the gene and is therefore very likely to be the cause of your cancer.

Variant of unknown significance (VUS) – sometimes called an inconclusive test result: Testing may identify a mutation or alteration in the gene where it is uncertain whether or not this would cause an increased cancer risk. This is known as a variant of unknown/uncertain clinical significance because it is not clear if it causes significant changes to the gene.

Mutation not present – sometimes called a negative test result: Testing has not identified any gene mutations.